13 Chromosomes

Chromosomes
Chapter 13
What is a Chromosome?
Chromosome is the highly condensed
form of DNA
Wrapped into nucleosomes
Wrapped into chromatin fiber
Condensed during metaphase into the
familiar shape
Humans have 22 autosomal pairs
And one pair of sex chromosomes
Cytogenetics
Study of chromosomes and chromosomal
abnormalities
Study Karyotypes picture of an
individuals chromosomes in Metaphase,
spread out on a slide
Chromosome Parts:
Heterochromatin:
More condensed
Silenced genes (methylated)
Gene poor (high AT content)
Stains darker
Euchromatin:
Less condensed
Gene expressing
Gene rich (higher GC content)
Stains lighter
Chromosome Parts:
Telomeres chromosome tips
Repeats
Act as sort of biological clock
Being whittled down at each Mitosis
Centromeres middle
Highly condensed
Also repetitive sequence
Region where spindle fibers attach
Pulling chromatids apart during Mitosis
Chromosome Parts:
p arm the smaller of the two arms
p stands for petite
q arm the longer of the two arms

Bands are numbered from centromere
outward
Chromosome Types
There are four types of chromosomes:
1. Telocentric
2. Acrocentric
3. Submetacentric
4. Metacentric
Divided based on the position of the

centromere
Chromosome Types:
1. Telocentric no p arm; centromere is on
end
2. Acrocentric very small p arm;
centromere is very near end
3. Submetacentric p arm just a little
smaller than q arm; centromere in middle
4. Metacentric p and q arms are exactly
the same length; centromere in exact
middle of chromosome
Chromosome Types:
Things to remember
Homologous chromosomes are not
identical
Can have different alleles of genes
Sister chromatids are identical

Form as cells go through S phase (replication)
Attached to each other by centromere
Until Anaphase of Mitosis
Once separated each is again referred
to as a chromosome
Karyotypes
Individuals chromosomes in Metaphase,
spread out on a slide
Used to study chromosomes
Identify chromosomal abnormalities
Cytogenetics
Making a Karyotype:
1. Obtain any cells with nucleus from
patient under study
Any cell other than red blood cells
2. Arrest and isolate cells in mitosis

Metaphase of mitosis
3. Spread out chromosomes

4. Identify each chromosome from each
other
Some sort of staining procedure
Making a Karyotype:
1. Arrest the cells in Metaphase
1. Chemical Colchicine used
2. Spread out chromosomes

1. Use osmosis to swell the cells
2. Squash the swollen cells under a slide
3. Identifying chromosomes
1. G-staining stains heterochromatin vs.
euchromatin
Making a Karyotype:
Identifying chromosomes
1. G-staining:
Stains heterochromatin vs. euchromatin
Light and dark banding pattern
2. FISH Fluorescence In Situ Hybridization

Paint chromosomes
Each a different color
3. Labeled DNA Probes

Use a small piece of DNA that will bind to its
complementary base pair
Examining Karyotypes
Identifying the wrong number of
chromosomes is easy
Finding large deletions, duplications or
rearrangements is possible with Gbanding staining
Finding smaller deletions, duplications or
rearrangements or identifying individuals
genes requires FISH or DNA probe
Karyotype
Go to this site to learn how to create a virtual karyotype

with real patient samples:
http://www.biology.arizona.edu/human_bio/activities/karyotyping/karyotyping.html
What can we learn from

Karyotypes?
Can see chromosomal abnormalities:
An extra chromosome
A deleted chromosome
Large deletion
Large duplication
Rearranged chromosome parts
Abnormal structure
Abnormal Number:
Polyploidy:
Complete extra set of chromosomes
Three of every chromosome
Cannot survive to birth
Aneuploidy:
Missing or extra of one chromosome
Monosomy missing one chromosome
Trisomy one extra chromosome
Only Trisomy 13, 18 and 21 are viable
Non-disjunction
Unequal division of chromosomes during
Meiosis
Can happen to either sperm or oocyte
Form one gamete with two copies of same
chromosome
Other gamete with zero copies of that
chromosome
Different outcomes if happens at first or
second stage of Meiosis
Non-disjunction
Why are only some

Aneuploidies viable?
Why only Trisomy 13, 18 and 21 for
autosomes?
Why can sex chromosomes be monsomic
or trisomic?
Deletion or Duplication
Deletion:
Large part of one chromosome has been
lost during mitosis
Vary in size larger is more severe
Duplication:
Large part of one chromosome has been
duplicated on same chromosome
Vary in size larger is more severe
Translocations
Non-homologous chromosomes have
exchanged pieces (crossed over)
1. Robertsonian Translocation
Two q arms of two different chromosomes
come together
Two p arms are lost entirely
2. Reciprocal Translocation
Two different chromosomes exchange parts
Since all parts are still present often normal
Robertsonian Translocation
Robertsonian Translocation
Reciprocal Translocation
Chr 4
Chr 20
4;20
20;4 20
Individual is usually fine

Unless translocation break point in middle of a gene
Think about what happens when this person
has children
Inversions
One part of chromosome has been flipped
around in opposite direction
Again, individual may be normal

Unless inversion breakpoints are in middle
of a gene
Or unless inversion affects centromeres
Possible Inversions
Abnormal Structure
Isochromosomes:
Have two identical arms
Two ps or two qs and not the other
Ring chromosomes:
Telomeres are lost, or dont function
So one end of chromosome attaches to
other end forming a ring
Cannot undergo mitosis successfully
Summary
Uniparental Disomy
When nondisjunction occurs in both the
mother and the fathers gametes
Causing two copies of one chromosome to
come only from one parent
Two bodies, one parent
Bodies are chromosomes
Incredibly rare event

More often nondisjunction leads to either
monosomy or trisomy
Uniparental Disomy
Which chromosome is
duplicated?
What did fathers sperm
look like?
What did mothers oocyte
look like?
Why does woman have
CF?
Summary
Know major parts of chromosome
Know difference between sister chromatids
and homologous chromosomes
Know karyotypes:
How to make them
What can and cant interpret from them
FISH, G-banding, DNA probe
Know types of chromosomal abnormalities

Dont worry about diseases
Next Class:
Homework Chapter Thirteen
Problems;
Review: 1, 3, 4, 9, 12
Applied: 1, 2, 4, 12
Also write out at least 2 questions
about material to review on Monday
Review Chapters 9-13 and notes
Next Class:
Review Chapters 9-13
Go through your review questions
Exam 2 October 25th

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Chromosomes

q arm the longer of the two arms

Divided based on the position of the

Sister chromatids are identical

2. Arrest and isolate cells in mitosis

3. Spread out chromosomes

2. Spread out chromosomes

2. FISH Fluorescence In Situ Hybridization

3. Labeled DNA Probes

Go to this site to learn how to create a virtual karyotype

What can we learn from

Why are only some

Individual is usually fine

Again, individual may be normal

Incredibly rare event

Know types of chromosomal abnormalities

Review Chapters 9-13 and notes

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